Papers
RefSeq ID
Protein change
DNA change
1–12 of 241 variants
NM_025233.7
p.R499C
c.1495C>T
NM_025233.7
p.E495_A496Splc
c.1486-3C>G
NM_025233.7
p.S55Y
c.164C>A
NM_025233.7
p.Q59*
c.175C>T
NM_025233.7
p.A214V
c.641C>T
NM_025233.7
p.Q52H
c.156G>C
NM_025233.7
p.G74S
c.220G>A
NM_025233.7
p.Y153insFs
c.458dupA
NM_025233.7
p.Q52H
c.156G>T
NM_025233.7
p.P98L
c.293C>T
NM_025233.7
p.G157_P162insFs
c.469_484dup16
NM_025233.7
p.R351W
c.1051A>T